Assessing the landscape of STXBP1-related disorders in 534 individuals

Disease-causing variants in STXBP1 are among the most common genetic causes of neurodevelopmental disorders. However, the phenotypic spectrum in STXBP1-related disorders is wide and clear correlations between variant type and clinical features have not been observed so far. Here, we harmonized clini...

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Detalles Bibliográficos
Autores principales: Xian, Julie, Parthasarathy, Shridhar, Ruggiero, Sarah M, Balagura, Ganna, Fitch, Eryn, Helbig, Katherine, Gan, Jing, Ganesan, Shiva, Kaufman, Michael C, Ellis, Colin A, Lewis-Smith, David, Galer, Peter, Cunningham, Kristin, O’Brien, Margaret, Cosico, Mahgenn, Baker, Kate, Darling, Alejandra, Veiga de Goes, Fernanda, El Achkar, Christelle M, Doering, Jan Henje, Furia, Francesca, García-Cazorla, Ángeles, Gardella, Elena, Geertjens, Lisa, Klein, Courtney, Kolesnik-Taylor, Anna, Lammertse, Hanna, Lee, Jeehun, Mackie, Alexandra, Misra-Isrie, Mala, Olson, Heather, Sexton, Emma, Sheidley, Beth, Smith, Lacey, Sotero, Luiza, Stamberger, Hannah, Syrbe, Steffen, Thalwitzer, Kim Marie, van Berkel, Annemiek, van Haelst, Mieke, Yuskaitis, Christopher, Weckhuysen, Sarah, Prosser, Ben, Son Rigby, Charlene, Demarest, Scott, Pierce, Samuel, Zhang, Yuehua, Møller, Rikke S, Bruining, Hilgo, Poduri, Annapurna, Zara, Federico, Verhage, Matthijs, Striano, Pasquale, Helbig, Ingo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2021
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9166568/
https://www.ncbi.nlm.nih.gov/pubmed/35190816
http://dx.doi.org/10.1093/brain/awab327

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